Rare Disease Library

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Beta-mannosidosis

Beta-mannosidase deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant